Incidental Mutation 'R9716:Atp6v0d2'
ID 730438
Institutional Source Beutler Lab
Gene Symbol Atp6v0d2
Ensembl Gene ENSMUSG00000028238
Gene Name ATPase, H+ transporting, lysosomal V0 subunit D2
Synonyms 1620401A02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9716 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 19876838-19922566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19890834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 109 (I109V)
Ref Sequence ENSEMBL: ENSMUSP00000029900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029900] [ENSMUST00000128605]
AlphaFold Q80SY3
Predicted Effect probably benign
Transcript: ENSMUST00000029900
AA Change: I109V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: I109V

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 346 6.2e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128605
AA Change: I36V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,204,274 (GRCm39) K178I possibly damaging Het
Adarb1 T A 10: 77,131,539 (GRCm39) H650L possibly damaging Het
Alms1 G T 6: 85,578,234 (GRCm39) L187F possibly damaging Het
Ano3 T A 2: 110,601,376 (GRCm39) N294I probably damaging Het
Asb3 T A 11: 31,031,460 (GRCm39) M360K probably benign Het
C9 A T 15: 6,526,430 (GRCm39) probably null Het
Calcr A T 6: 3,687,468 (GRCm39) I510N probably benign Het
Cdc5l G A 17: 45,744,500 (GRCm39) probably benign Het
Cdca3 T A 6: 124,809,172 (GRCm39) I104N probably benign Het
Chpt1 C T 10: 88,339,446 (GRCm39) probably null Het
Chrna5 A G 9: 54,911,919 (GRCm39) I240V probably benign Het
Dhx29 T C 13: 113,081,612 (GRCm39) V412A possibly damaging Het
Dnah11 T A 12: 118,024,148 (GRCm39) M1868L probably damaging Het
Dock6 A G 9: 21,742,418 (GRCm39) V269A probably benign Het
Eif4b T C 15: 101,990,443 (GRCm39) S16P probably benign Het
Eppk1 G A 15: 75,994,526 (GRCm39) T785I probably benign Het
Ezh2 T C 6: 47,531,141 (GRCm39) Y181C possibly damaging Het
Fem1c T C 18: 46,657,561 (GRCm39) Y51C probably damaging Het
Garin5a A T 7: 44,150,405 (GRCm39) E199V probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gltp A G 5: 114,808,470 (GRCm39) *210Q probably null Het
Gm10318 T A 10: 77,689,102 (GRCm39) V123D unknown Het
Gm5134 C T 10: 75,821,943 (GRCm39) T259I probably benign Het
Gm6526 T A 14: 43,988,309 (GRCm39) C187S probably benign Het
Golga2 T A 2: 32,189,287 (GRCm39) S273T probably damaging Het
Gulo T C 14: 66,234,348 (GRCm39) E238G probably benign Het
Htt G A 5: 35,012,019 (GRCm39) V1565M probably damaging Het
Inpp5d A T 1: 87,625,191 (GRCm39) D457V possibly damaging Het
Itpk1 C T 12: 102,572,347 (GRCm39) probably null Het
Kif20a T C 18: 34,762,228 (GRCm39) C414R possibly damaging Het
Klra3 T C 6: 130,300,602 (GRCm39) I256V probably damaging Het
Klrb1a T C 6: 128,597,239 (GRCm39) T60A probably benign Het
Kmt2d T C 15: 98,741,283 (GRCm39) K4592E unknown Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lhcgr A G 17: 89,050,446 (GRCm39) I360T probably damaging Het
Lmod2 G A 6: 24,604,182 (GRCm39) V386I possibly damaging Het
Med29 T C 7: 28,086,308 (GRCm39) I167V possibly damaging Het
Mis18bp1 T A 12: 65,205,337 (GRCm39) probably benign Het
Mtus2 A G 5: 148,013,464 (GRCm39) K86E possibly damaging Het
Ndst4 T A 3: 125,232,211 (GRCm39) L260Q probably damaging Het
Neurod2 T C 11: 98,218,444 (GRCm39) Y240C probably damaging Het
Nsd1 T C 13: 55,458,313 (GRCm39) V2142A possibly damaging Het
Or10ag55-ps1 T A 2: 87,115,491 (GRCm39) S286T probably damaging Het
Or10c1 G T 17: 37,522,355 (GRCm39) R130S possibly damaging Het
Or1q1 C T 2: 36,887,290 (GRCm39) A156V probably damaging Het
Or6p1 T A 1: 174,258,641 (GRCm39) S216T probably benign Het
Pcm1 T A 8: 41,728,168 (GRCm39) S542T probably damaging Het
Pde7a C T 3: 19,285,167 (GRCm39) G340D probably benign Het
Phkb T G 8: 86,604,798 (GRCm39) C68G probably null Het
Ppif A G 14: 25,695,921 (GRCm39) T73A possibly damaging Het
Prkacb T C 3: 146,463,475 (GRCm39) E79G probably damaging Het
Ptprz1 G T 6: 22,959,650 (GRCm39) W49L probably damaging Het
Ring1 T C 17: 34,240,420 (GRCm39) E386G possibly damaging Het
Rp1 A G 1: 4,212,833 (GRCm39) probably null Het
Rrm2 T C 12: 24,760,446 (GRCm39) Y177H probably damaging Het
Rsf1 CGGC CGGCGGCGGAGGC 7: 97,229,139 (GRCm39) probably benign Het
Scn4b T A 9: 45,060,639 (GRCm39) I180N probably damaging Het
Slc22a12 A G 19: 6,586,765 (GRCm39) probably null Het
Spa17 C T 9: 37,518,921 (GRCm39) A73T probably damaging Het
Ssh3 C T 19: 4,312,437 (GRCm39) R636Q probably benign Het
Sugp2 C A 8: 70,712,370 (GRCm39) T995K probably damaging Het
Sumo3 T A 10: 77,442,792 (GRCm39) V4E unknown Het
Svil C A 18: 5,062,370 (GRCm39) Q810K probably damaging Het
Tbr1 C T 2: 61,635,077 (GRCm39) P9L probably benign Het
Tmem26 C T 10: 68,576,790 (GRCm39) P78L probably damaging Het
Ttll9 A G 2: 152,818,136 (GRCm39) H42R probably benign Het
Usb1 T C 8: 96,070,685 (GRCm39) Y204H probably damaging Het
Vcpip1 A G 1: 9,815,948 (GRCm39) Y812H probably benign Het
Vmn2r15 T C 5: 109,445,224 (GRCm39) R67G possibly damaging Het
Wdr64 A T 1: 175,622,658 (GRCm39) I802L probably benign Het
Xndc1 T C 7: 101,725,114 (GRCm39) S100P probably damaging Het
Xpot T C 10: 121,447,392 (GRCm39) I128V probably benign Het
Xrn1 C T 9: 95,927,632 (GRCm39) S1472F possibly damaging Het
Zscan12 A T 13: 21,547,938 (GRCm39) Y40F possibly damaging Het
Other mutations in Atp6v0d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Atp6v0d2 APN 4 19,881,436 (GRCm39) missense probably damaging 1.00
IGL01759:Atp6v0d2 APN 4 19,878,335 (GRCm39) missense probably damaging 0.98
IGL02006:Atp6v0d2 APN 4 19,878,325 (GRCm39) missense probably damaging 1.00
IGL02515:Atp6v0d2 APN 4 19,880,063 (GRCm39) missense possibly damaging 0.63
IGL03100:Atp6v0d2 APN 4 19,910,586 (GRCm39) critical splice donor site probably null
IGL02796:Atp6v0d2 UTSW 4 19,887,324 (GRCm39) missense probably damaging 1.00
R0083:Atp6v0d2 UTSW 4 19,880,001 (GRCm39) splice site probably benign
R0133:Atp6v0d2 UTSW 4 19,910,578 (GRCm39) splice site probably benign
R0371:Atp6v0d2 UTSW 4 19,880,033 (GRCm39) missense possibly damaging 0.92
R0845:Atp6v0d2 UTSW 4 19,880,055 (GRCm39) missense probably benign 0.02
R1279:Atp6v0d2 UTSW 4 19,878,298 (GRCm39) missense probably benign 0.02
R1541:Atp6v0d2 UTSW 4 19,910,645 (GRCm39) missense probably damaging 1.00
R1802:Atp6v0d2 UTSW 4 19,922,366 (GRCm39) critical splice donor site probably null
R3417:Atp6v0d2 UTSW 4 19,888,829 (GRCm39) unclassified probably benign
R3833:Atp6v0d2 UTSW 4 19,922,395 (GRCm39) missense probably damaging 1.00
R3884:Atp6v0d2 UTSW 4 19,910,677 (GRCm39) missense probably damaging 1.00
R5158:Atp6v0d2 UTSW 4 19,878,292 (GRCm39) missense probably damaging 1.00
R6284:Atp6v0d2 UTSW 4 19,922,605 (GRCm39) splice site probably null
R7290:Atp6v0d2 UTSW 4 19,880,060 (GRCm39) missense probably benign 0.44
R7341:Atp6v0d2 UTSW 4 19,887,330 (GRCm39) missense possibly damaging 0.46
R7832:Atp6v0d2 UTSW 4 19,922,400 (GRCm39) missense probably benign 0.18
R8231:Atp6v0d2 UTSW 4 19,881,451 (GRCm39) missense probably damaging 1.00
R8757:Atp6v0d2 UTSW 4 19,910,649 (GRCm39) missense probably benign
R8759:Atp6v0d2 UTSW 4 19,910,649 (GRCm39) missense probably benign
R8811:Atp6v0d2 UTSW 4 19,922,397 (GRCm39) missense probably benign 0.05
R9227:Atp6v0d2 UTSW 4 19,878,374 (GRCm39) missense probably benign
R9334:Atp6v0d2 UTSW 4 19,890,695 (GRCm39) missense probably damaging 1.00
R9378:Atp6v0d2 UTSW 4 19,922,377 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CATTTTCTAACAGGCGCAGG -3'
(R):5'- CACTCCCTATAGTTGAGAAGCATTTAG -3'

Sequencing Primer
(F):5'- GCGCAGGCCATTTCACAAATAAG -3'
(R):5'- AGCATCCACTACTGTTCCTAACATGG -3'
Posted On 2022-10-06